raremaprare-disease reference indexOrphadata 2026-06-23 · HPO 2026-09-01
ORPHA:2895

Pinsky-Di George-Harley syndrome

inactive · moved to ORPHA:2510Micro syndrome

Synonyms: Microphthalmia-intellectual disability syndrome

Type
Malformation syndrome
Group
Disorder
Status
inactive
Flag
Deprecated entity

This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Micro syndrome

1

Names in Orphadata languages

12 of 12 languages
LangNameSynonyms
enPinsky-Di George-Harley syndromeMicrophthalmia-intellectual disability syndrome
frSyndrome de Pinsky-Di George-HarleySyndrome de microphtalmie-déficience intellectuelle
dePinsky-Di George-Harley-SyndromMikrophthalmie mit Intelligenzminderung
esSíndrome de Pinsky-Di George-HarleyMicroftalmia-discapacidad intelectual
itSindrome di Pinsky-Di George-HarleyMicroftalmia - ritardo mentale
nlSyndroom van Pinsky-Di George-HarleyMicroftalmie - intellectuele achterstand-syndroom
ptSíndrome Pinsky-Di George-HarleySíndrome de microftalmia-perturbação do desenvolvimento intelectual
plZespół Pinsky'ego, Di George'a i Harley'aMałoocze - upośledzenie umysłowe
csPinskyův-Di Georgeův-Harleyův syndromSyndrom zahrnující mikroftalmii a mentální deficit · Pinsky-Di George-Harleyův syndrom
ukСиндром Пінського-Ді Джорджи-ХарліСиндром мікрофтальмії та інтелектуальної недостатності
zhPinsky-Di George-Harley综合征小眼-智力障碍综合征
trPinsky-Di George-Harley sendromuMikroftalmi-zihinsel yetersizlik sendromu
2

Cross-references

qualifier = Orphanet mapping relation
SourceCodeQualifierICD relationValidation
UMLSC2931500Evalidated

E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.

3

Classification

Not placed in any Orphanet classification in this release.

No children.

4

Genes

0 direct

Orphanet records no gene directly on this code.

5

Prevalence and incidence

0 records

No prevalence record in this release.

6

HPO phenotypes

Orphanet has no HPO annotation for this code in this release.

7

Sources for this card